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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-3976647-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3976647&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "EEF2",
"hgnc_id": 3214,
"hgvs_c": "c.2483_2484delGCinsAT",
"hgvs_p": "p.Ser828Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001961.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 858,
"aa_ref": "S",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 2567,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2483,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001961.4",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2483_2484delGCinsAT",
"hgvs_p": "p.Ser828Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309311.7",
"protein_coding": true,
"protein_id": "NP_001952.1",
"strand": false,
"transcript": "NM_001961.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 858,
"aa_ref": "S",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 2567,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2483,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000309311.7",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2483_2484delGCinsAT",
"hgvs_p": "p.Ser828Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001961.4",
"protein_coding": true,
"protein_id": "ENSP00000307940.5",
"strand": false,
"transcript": "ENST00000309311.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 875,
"aa_ref": "S",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2534,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858190.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2534_2535delGCinsAT",
"hgvs_p": "p.Ser845Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528249.1",
"strand": false,
"transcript": "ENST00000858190.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 868,
"aa_ref": "S",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2513,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939496.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2513_2514delGCinsAT",
"hgvs_p": "p.Ser838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609555.1",
"strand": false,
"transcript": "ENST00000939496.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 866,
"aa_ref": "S",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2507,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858189.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2507_2508delGCinsAT",
"hgvs_p": "p.Ser836Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528248.1",
"strand": false,
"transcript": "ENST00000858189.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 856,
"aa_ref": "S",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3180,
"cdna_start": 2577,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2477,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939490.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2477_2478delGCinsAT",
"hgvs_p": "p.Ser826Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609549.1",
"strand": false,
"transcript": "ENST00000939490.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 856,
"aa_ref": "S",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 2562,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2477,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939491.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2477_2478delGCinsAT",
"hgvs_p": "p.Ser826Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609550.1",
"strand": false,
"transcript": "ENST00000939491.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 854,
"aa_ref": "S",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 2556,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2471,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858184.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2471_2472delGCinsAT",
"hgvs_p": "p.Ser824Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528243.1",
"strand": false,
"transcript": "ENST00000858184.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 854,
"aa_ref": "S",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2471,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967316.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2471_2472delGCinsAT",
"hgvs_p": "p.Ser824Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637375.1",
"strand": false,
"transcript": "ENST00000967316.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 849,
"aa_ref": "S",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2550,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967318.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2456_2457delGCinsAT",
"hgvs_p": "p.Ser819Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637377.1",
"strand": false,
"transcript": "ENST00000967318.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 836,
"aa_ref": "S",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 2511,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858187.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2417_2418delGCinsAT",
"hgvs_p": "p.Ser806Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528246.1",
"strand": false,
"transcript": "ENST00000858187.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 835,
"aa_ref": "S",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 2498,
"cds_end": null,
"cds_length": 2508,
"cds_start": 2414,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939495.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2414_2415delGCinsAT",
"hgvs_p": "p.Ser805Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609554.1",
"strand": false,
"transcript": "ENST00000939495.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2381,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858191.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2381_2382delGCinsAT",
"hgvs_p": "p.Ser794Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528250.1",
"strand": false,
"transcript": "ENST00000858191.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 820,
"aa_ref": "S",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 2453,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2369,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858185.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2369_2370delGCinsAT",
"hgvs_p": "p.Ser790Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528244.1",
"strand": false,
"transcript": "ENST00000858185.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 803,
"aa_ref": "S",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 2402,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2318,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858188.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2318_2319delGCinsAT",
"hgvs_p": "p.Ser773Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528247.1",
"strand": false,
"transcript": "ENST00000858188.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 740,
"aa_ref": "S",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 2213,
"cds_end": null,
"cds_length": 2223,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939494.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2129_2130delGCinsAT",
"hgvs_p": "p.Ser710Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609553.1",
"strand": false,
"transcript": "ENST00000939494.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 729,
"aa_ref": "S",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 2183,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2096,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939492.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.2096_2097delGCinsAT",
"hgvs_p": "p.Ser699Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609551.1",
"strand": false,
"transcript": "ENST00000939492.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 622,
"aa_ref": "S",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1775,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939497.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.1775_1776delGCinsAT",
"hgvs_p": "p.Ser592Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609556.1",
"strand": false,
"transcript": "ENST00000939497.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 615,
"aa_ref": "S",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858186.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.1754_1755delGCinsAT",
"hgvs_p": "p.Ser585Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528245.1",
"strand": false,
"transcript": "ENST00000858186.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 419,
"aa_ref": "S",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967319.1",
"gene_hgnc_id": 3214,
"gene_symbol": "EEF2",
"hgvs_c": "c.1166_1167delGCinsAT",
"hgvs_p": "p.Ser389Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637378.1",
"strand": false,
"transcript": "ENST00000967319.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 276,
"aa_ref": "S",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": 821,
"cds_end": null,
"cds_length": 831,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
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